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Molecular Diagnostics

Image: A sample collection kit for the expanded Multi-Cancer 83-gene comprehensive panel that increases diagnostic yield (Photo courtesy of Invitae).

Multi-Gene Panel Testing Catches Cancer Risk Variants

Over 608,000 patients with ovarian, breast, pancreatic, prostate and colorectal cancer are diagnosed each year. Current guidelines recommend testing all patients with ovarian and pancreatic cancer, as well as patients with prostate, breast and colorectal cancer (CRC) who meet certain criteria. More...
25 Apr 2019
Image: The PacBio RS II sequencer uses single molecule, real time (SMRT) sequencing technology (Photo courtesy of Pacific Biosciences).

High-Res Genotyping Improves Survival for Stem Cell Transplantation

Allogeneic hematopoietic cell transplantation (HCT) provides a curative treatment option for individuals with hematologic diseases. Recipients and donors are considered to be compatible or “well matched” if they share a high degree of genetic similarity at their human leukocyte antigen (HLA) loci. More...
25 Apr 2019
Image: A model for the impact of TP53 variant allele frequency on disease progression in myeloid neoplasms (Photo courtesy of Lee Moffitt Cancer Center and Research Institute).

Sequencing Finds Germline Risk Variants in Pediatric Cancer Cases

Somatic panel sequencing is increasingly used in pediatric oncology to aid in cancer diagnosis, risk classification, identification of targetable biomarkers, and treatment planning. As tumor tissues contain both somatic and germline variants, tumor profiling can uncover potential germline changes incidentally. More...
25 Apr 2019
Image: The LuxScan 10K-B confocal laser scanner for microarray imaging and data analysis of DNA, protein, cell and tissue arrays (Photo courtesy of Capital Bio).

Biochip Assay Rapidly Detects Mycobacterial Isolates

Tuberculosis (TB) has bounced back in the past several decades and has become the main cause of death from one single infectious disease, mainly due to the epidemic of human immunodeficiency virus (HIV). More...
24 Apr 2019
Image: An area of mild erythema around varicella lesion on the thigh of a young boy progressed to necrotizing fasciitis caused by group A Streptococcus (Photo courtesy of Dr. E. P. Dellinger, MD).

Multiplex Assay Detects Pathogens in NF Patients

Necrotizing fasciitis (NF) is a life-threatening deep soft tissue infection characterized by rapidly progressive necrosis of the fascia and the adjacent soft tissues. NF of the extremities is associated with high mortality rates, and immediate surgical intervention is required upon detection of NF infections. More...
23 Apr 2019
Image: The MinION, a small hand-held device that \"decodes\" individual strands of DNA in real-time (Photo courtesy of Dr. Sophie Zaaijer).

DNA Sequencing Reduces Huntington's Disease Diagnosis

Huntington's disease is an inherited neuro-degenerative disorder, which stops parts of the brain working properly, with symptoms worsening over time, and is usually fatal within 20 years. Currently individuals with symptoms of Huntington's disease have a blood test and can wait up to four weeks for the result. More...
23 Apr 2019
Image: A histopathology of Hirschsprung’s disease, which is characterized by the absence of parasympathetic ganglion cells in both submucosal as well as myenteric plexuses in the distal gastrointestinal tract (Photo courtesy of Dr. Dharam Ramnani).

Suite of Risk Variants Revealed in Hirschsprung's Disease

Hirschsprung’s disease, or congenital aganglionosis, is a developmental disorder of the enteric nervous system and is the most common cause of intestinal obstruction in neonates and infants, often appearing in combination with other symptoms in a manner that may reflect specific syndromes. More...
23 Apr 2019
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Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.
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